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Báo cáo khoa học: Respective roles of the catalytic domains and C-terminal tail peptides in the oligomerization and secretory trafficking of human acetylcholinesterase and butyrylcholinesterase potx

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For convenience, the large catalytic domains are designated by capital letters A and B, whereas the small t peptides are designated by lower case letters a and b, so that the wild-type A

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tail peptides in the oligomerization and secretory

trafficking of human acetylcholinesterase and

butyrylcholinesterase

Dong Liang1,2, Jean-Philippe Blouet1, Fernanda Borrega1, Suzanne Bon1and Jean Massoulie´1

1 Laboratoire de Neurobiologie, CNRS UMR 8544, Ecole Normale Supe´rieure, Paris, France

2 Key Laboratory of Brain Functional Genomics, MOE&STCSM, Shanghai Institute of Brain Functional Genomics, East China Normal University, China

In vertebrates, butyrylcholinesterase (BChET) and the

T splice variant of acetylcholinesterase (AChET)

consist of a catalytic domain of approximately 500

residues, followed by C-terminal tail (t) peptides [1,2]

These peptides of 41 and 40 residues, respectively,

con-tain seven strictly conserved aromatic residues,

includ-ing three evenly spaced tryptophans, and a cysteine

located at position )4 from the C-terminus The

t peptide plays an important role in the biosynthesis of cholinesterases, particularly their folding and export For example, it has been shown that it induces the misfolding of a significant fraction of newly synthe-sized AChE polypeptides, and that this effect depends

on hydrophobicity since it was maintained when the aromatic residues were replaced by leucines The t pep-tide also reduces export, as indicated by the fact that

Keywords

acetylcholinesterase; butyrylcholinesterase;

cysteines; oligomers; secretion

Correspondence

J Massoulie´, Laboratoire de Neurobiologie,

CNRS UMR 8544, Ecole Normale

Supe´rieure, Paris, France

Fax: +33 1 44 32 38 87

Tel: +33 1 44 32 38 91

E-mail: jean.massoulie@biologie.ens.fr

(Received 13 August 2008, revised

25 September 2008, accepted

24 October 2008)

doi:10.1111/j.1742-4658.2008.06756.x

Butyrylcholinesterase (BChE) and the T splice variant of acetylcholinester-ase that is predominant in mammalian brain and muscles (AChET) possess

a characteristic C-terminal tail (t) peptide This t peptide allows their assembly into tetramers associated with the anchoring proteins ColQ and PRiMA Although the t peptides of all vertebrate cholinesterases are remarkably similar and, in particular, contain seven strictly conserved aromatic residues, these enzymes differ in some of their oligomerization properties To explore these differences, we studied human AChE (Aa) and BChE (Bb), and chimeras in which the t peptides (a and b) were exchanged (Ab and Ba) We found that secretion was increased by deletion of the

t peptides, and that it was more efficient with a than with b The patterns

of oligomers were similar for Aa and Ab, as well as for Ba and Bb, indicat-ing a predominant influence of the catalytic domains However, addition of

a cysteine within the aromatic-rich segment of the t peptides modified the oligomeric patterns: with a cysteine at position 19, the proportion of tetra-mers was markedly increased for Aa(S19C) and Ba(S19C), and to a lesser extent for Bb(N19C); the Ab(N19C) mutant produced all oligomeric forms, from monomers to hexamers These results indicate that both the catalytic domains and the C-terminal t peptides contribute to the capacity of cho-linesterases to form and secrete various oligomers Sequence comparisons show that the differences between the t peptides of AChE and BChE are remarkably conserved among all vertebrates, suggesting that they reflect distinct functional adaptations

Abbreviations

AchE T , T splice variant of acetylcholinesterase; BChE, butyrylcholinesterase; DEPQ, 7-[(diethoxyphosphoryl)oxy]-1-methylquinolinium iodide; Nbs2, 5,5¢-dithiobis(2-nitrobenzoic acid); PRAD, proline-rich attachment domains; t, tail.

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the ratio of secreted to cellular AChE was strongly

increased when it was deleted; this effect was

sup-pressed by mutation of the aromatic residues to

leucines [3–6]

However, the major function of the t peptides is that

they allow the assembly of tetramers of AChET[7] and

of BChET [8] and their association with the structural

proteins ColQ and PRiMA [9,10] These heteromeric

structures are based on a tight association between

four t peptides, also named tryptophan (W)

amphi-philic tetramerization domains, and the poly-proline

motifs, or proline-rich attachment domains (PRADs)

of ColQ and PRiMA [11–13] In addition, the BChE

tetramers that circulate in the blood plasma have

recently been shown to incorporate a similar

proline-rich peptide derived from the protein lamellipodin [14]

Crystallographic analyses of a complex of synthetic t

and PRAD peptides showed that four a-helical t

pep-tides form a coiled-coil around the PRAD, which is

arranged in a poly-proline II helix [15]

The assembly of cholinesterase homo-tetramers or

PRAD-associated tetramers is entirely conditioned by

the presence of a t peptide because truncated AChE

subunits lacking the t peptide only produce secreted

monomers [16] This peptide constitutes an

autono-mous interaction module, necessary and sufficient for

tetramerization and association with PRAD-containing

proteins, because addition of a t peptide at the

C-ter-minus of green fluorescent protein or alkaline

phos-phatase allowed the formation of tetramers associated

with an N-terminal fragment of ColQ [17] However,

the catalytic domains are also involved in quaternary

interactions that certainly participate in the formation

and stability of these oligomers In particular, the

tet-ramers are formed of two pairs of subunits, in which

a7,8 and a10helices from each subunit form a four

helix bundle, with a hydrophobic contact zone [16,18]

The respective contributions of the catalytic domains

and the t peptides in oligomers has not been evaluated

The formation of AChET tetramers associated with

PRAD-containing proteins is physiologically important

because it ensures their functional localization by ColQ

in the basal lamina at neuromuscular junctions [19], as

well as by PRiMA in cell membranes, particularly

in the brain [20] Similarly, the formation of BChET

tetramers conditions the secretion of this enzyme and

its stability in the bloodstream

Injection of AChE or BChE offers a very efficient

protection against poisoning by anti-cholinesterase

agents, such as organophosphorous pesticides, but

monomers and dimers are much more rapidly

elimi-nated than tetramers after injection in the circulation

[21–27] Although the half life of recombinant

enzymes, even monomers, in the bloodstream can be considerably increased by derivatization with polyeth-ylene glycol [28–33], it may be interesting to produce these enzymes as recombinant proteins in a stable tet-rameric form, which also present a greater thermal sta-bility than monomers or dimers [34]

Mutants lacking the cysteine located at)4 from the C-terminus do not form stable dimers, but can form tetramers, particularly in the presence of a PRAD-con-taining protein It is likely that transient dimerization occurs as a first step in the assembly of tetramers, either associated or not with a PRAD We recently found that addition of a second cysteine at an appro-priate position in the t peptide of Torpedo AChE greatly increased the formation and secretion of homo-tetramers [4] We therefore explored the possibility that mutations in the t peptides of human AChET and BChETmight induce their assembly into tetramers Because these two enzymes differ in their capacity to form oligomers, we investigated the respective roles of the catalytic domain and of the t peptides For this purpose, we constructed chimeric proteins, in which

we associated the catalytic domain of each enzyme with the t peptide of the other For convenience, the large catalytic domains are designated by capital letters (A and B), whereas the small t peptides are designated

by lower case letters (a and b), so that the wild-type AChE and BChE are Aa and Bb, and the chimeras are

Ab and Ba Comparisons of wild-type enzymes and chimeras, as well as of various mutants, show that both domains contribute critically to the oligomeriza-tion and to the efficiency of secreoligomeriza-tion

Results Exchange of t peptides between human AChE and BChE

The T variants of human AChE and human BChE are composed of a catalytic domain of approximately 500 residues, followed by small C-terminal t peptides of 40 and 41 residues, respectively In the present study, the catalytic domains are indicated by capital letters (A and B) and the C-terminal peptides by lower case letters (a and b), so that the wild-type enzymes are abbreviated as

Aa and Bb The C-terminal t peptides of human AChET (a) and BChET(b) are highly homologous, with 24 iden-tical residues (60%), including the seven aromatic resi-dues and the cysteine located at)4 from the C-terminus, being strictly conserved among all vertebrate cholines-terases (Fig 1A) However, they present significant dif-ferences, particularly between the residues immediately following the catalytic domain Some of the differences

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between the peptides a and b might be important for the

processing and the activity of AChE and BChE, notably

those involving charged residues, the presence in peptide

b of an additional tryptophan (W8) and the presence of

six instead of five residues between the aromatic-rich

region and the cysteine Both peptides are predicted to

form amphiphilic a helices, in which the aromatic

resi-dues are clustered in a sector of approximately 140

(Fig 1B)

To analyze the oligomerization properties due to the

t peptides of human AChE and BChE, we constructed

chimeras Ab and Ba in which we exchanged these

pep-tides; we also deleted the C-terminal peptides,

produc-ing the truncated enzymes A and B The different

constructs were expressed in transiently transfected

COS cells, and we analyzed the cellular and secreted

cholinesterase activities (Fig 2), as well as the

oligo-meric patterns, revealed by sedimentation profiles in

sucrose gradients (Fig 3)

The C-terminal t peptides do not influence the

catalytic activity of AChE and BChE

We examined the possible influence of the C-terminal

peptides on the AChE and BChE activities by

comparing the catalytic rates per active site The active

sites were titrated with the irreversible inhibitor

7-[(diethoxyphosphoryl)oxy]-1-methylquinolinium iodide

(DEPQ) (see Experimental procedures) The slopes of residual activity, plotted as a function of the amount

of DEPQ, were identical for A, Aa and Ab, with acetylthiocholine as substrate, as well as for B, Ba and Bb, using either acetylthiocholine or butyrylthio-choline as substrates Because of excess substrate inhi-bition, AChE presented a maximal rate for approximately 2 mm acetylthiocholine The rates of hydrolysis of acetylthiocholine and butyrylthiocholine (at 6 mm) by BChE were approximately 14% and 24% of the rate of hydrolysis of acetylthiocholine (at 2 mm) by AChE

Influence of the C-terminal t peptides on activity, secretion and oligomerization

As expected, the truncated mutants A and B, without

t peptides, produced only monomers, sedimenting around 4S (not shown) The levels of cellular activity were lower for these mutants than for the wild-types but secretion was increased (Fig 2A,B), in agreement with our previous conclusions that t peptides induce a partial misfolding of the polypeptides, as well as an intracellular degradation of a fraction of active subunits [3]

Cells expressing wild-type human AChE (Aa) secreted approximately 15% of their content per hour and produced mostly monomers and dimers, with a small proportion of tetramers (less than 10% of the

A

B

Fig 1 Structures of AChE and BChE t peptides (A) Sequences of the C-terminal t peptides of human AChE and BChE These peptides (a and b) are encoded by 3¢ exons from the cholinesterase genes; in the present study, we numbered from their first residue The seven aromatic residues, which are conserved in all vertebrate cholinesterases, are shown in blue; acidic residues are shown in red and basic resi-dues in green; the cysteines are indicated by orange arrowheads and the resiresi-dues that have been mutated to cysteines in the present study are underlined Residues that differ between peptides a and b and were mutated in b are indicated by vertical lines above the sequence (those which were mutated as a group are joined by an horizontal line) (B) En face view of the a helices formed by the N-terminal regions

of peptides a and b Colours are as in (A), except that cysteines are shown in orange and residues that were mutated to cysteines are indi-cated by orange circles.

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secreted activity) For human BChE (Bb), the rate of

secretion was only approximately 5% of the cellular

content per hour This enzyme formed a higher

pro-portion of oligomers, mostly dimers in the cells, and

tetramers represented approximately 30% of the

secreted enzyme, together with comparable proportions

of dimers and monomers (Fig 3A)

The fact that Bb forms a higher proportion of olig-omers, but is less efficiently secreted than Aa, is quite paradoxical because secretion generally increases with the degree of oligomerization Clearly, the assembly

of tetramers is not restricted by the fact that each BChE subunit possesses nine N-linked glycans [35], whereas AChE has only four This was confirmed by

0 50 100

150 200

- A-Aa

Aa S19C

Aa S38C -Ab

Ab SSVGL

Ab N19C

Ab N19C N18S

Ab N19C MD22VH

Ab N19C N18S MD22VH

- B-Ba

Ba S19C -Bb

Bb SSVGL

Bb A12C

Bb H15C

Bb N19C

Bb N26C

Bb S37C

Bb N19C N18S

Bb N19C MD22VH

Bb N19C N18S MD22VH

-Cellular activity

A

B

Secreted activity

0 1 2 3 4 5 6

A- Aa

Aa S19C Aa S38C

B- Ba

Bb A12C Bb H15C Bb N19C Bb D23C Bb N26C Bb S37C

Ratio of secreted to cellular acti

Fig 2 Cellular and secreted activities produced by human AChE, BChE and mutants used in the present study (A) Cellular and secreted activities A and B represent AChE and BChE from which the t peptides were deleted; Aa and Bb represent the wild-type enzymes with their t peptides, Ab and Ba represent chimeras in which the t peptides were exchanged; mutations in the t peptides are indicated For each mutant, the cellular and secreted activities are shown by bars to the left and the right AChE and BChE activities were determined by the Ellman assay with acetylthiocholine and butyrylthiocholine as substrates, respectively: AChE activities are indicated as grey bars and BChE activities as hatched bars AChE and BChE activities were normalized to the wild-type enzymes (Aa and Bb, respectively) (B) Ratio

of secreted to cellular activity Note that the double mutation M22V ⁄ D23H is abbreviated as MD22VH.

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the fact that mutants lacking some of the

N-glycosyl-ation sites, which were provided by O Lockridge [36],

did not produce a higher proportion of tetramers

(not shown)

For the chimeras Ab and Ba, the rates of secretion

were approximately 5% and 15% of the cellular

con-tent per hour, respectively, and therefore appeared to

be mainly determined by the t peptides By contrast,

Fig 3B shows that the sedimentation profiles were

very similar for Aa and Ab, and for Ba and Bb, except that the BChE species sedimented faster than their AChE counterparts, in agreement with the higher mass of BChE subunits [37] This indicates a predominant influence of the catalytic domain on oligomerization

Role of the C-terminal cysteine Mutation of the cysteine located at )4 from the C-ter-minus to a serine in the a or b peptides suppressed the formation of Aa or Bb dimers, but not the production

of a small proportion of tetramers (not shown) These mutations increased the ratio of secreted to cellular activity in both cases (Fig 2) However, in the case of

Bb, the cellular activity was decreased and secretion was increased, suggesting that the presence of this cys-teine retains the enzyme intracellularly In case of Aa, the cellular activity of AChE was also decreased by approximately 50% but secretion was not modified, suggesting that degradation was increased by suppres-sion of the cysteine

Thus, it appears that the effect of a C-terminal cysteine on the trafficking of cholinesterase in the secretory pathway largely depends on the nature of the preceding catalytic domain

Oligomerization might be affected by the distance between the aromatic core and the C-terminal cysteine, which forms inter-catenary disulfide bonds There are five residues between Y31 and this cysteine in peptide a, and six in peptide b, because of an additional residue, T32 To evaluate the possible influence of this residue

on oligomerization, we deleted T32 in Bb and we mutated peptides a (CSDL to SCDL) and b (SCVGL to CSVGL), to modify the number of residues between the cysteine and the aromatic core We found that these mutations had no effect on either the levels of cellular and secreted activities, or on the distribution of oligo-meric forms (not shown) Similarly, these mutations did not modify the secretion or the oligomerization of mutants possessing a cysteine at position 19 (see below) Thus, the addition or subtraction of one residue in the interval between the aromatic residues and the cysteine had no influence, suggesting that this peptidic segment represents a flexible spacer, in agreement with previous studies on Torpedo AChE [38]

Role of cysteines in oligomerization – effects of introducing an additional cysteine

In a previous study, we found that mutating residue

19 in the t peptide of Torpedo AChE considerably increased the production and secretion of tetramers

Cell extract

Medium

G1 G2

G4

G1

G2 G4

G1

G2

G4

G1

G2 G4 G3 G6

G1

G2

G4

G1

G2 G4

G1 G2

G4

G1

G2 G4

Aa

Bb

Ba

Ab

Aa

Sedimentation coefficients

10

Wild-type t peptides

19C

Bb

Ba

Ab 19C

19C

19C

Fig 3 Sedimentation profiles indicating the proportions of

oligo-meric forms produced by AChE, BChE, chimeras and mutants (A)

Left panels: Aa, Ab, Ba, Bb (B) Right panels: mutants containing a

cysteine at position 19 (S19C in peptide a, N19C in peptide b) The

profiles corresponding to cell extracts are shown with filled

sym-bols (d, AChE; , BChE) and a continuous line, and those

corre-sponding to the medium with empty symbols (s, AChE; h, BChE)

and a dashed line The peaks corresponding to tetramers, dimers

and monomers are indicated as G4, G2and G1, respectively Note

that the molecular forms of BChE and its mutants sediment slightly

faster than the corresponding AChE molecular forms.

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[4] We therefore introduced similar mutations in a

and b, and analyzed the resulting activities and

molecular forms produced by expressing the four

cholinesterase combinations in COS cells This

mutation did not modify the level of secretion for

Aa19C, increased it for Ba19C, and decreased it for

Ab19C and Bb19C (Fig 2) The fact that the cellular

activity was unchanged or decreased, whereas

sec-retion was decreased, indicates that the N19C

mutation in peptide b induced an intracellular

degra-dation of Ab19C and Bb19C As observed in the

pre-ceding section, the ratio of secreted to cellular

activity again appeared to depend essentially on the

t peptides: it was much higher for Aa19C and Ba19C

than for Ab19C and Bb19C The 19C mutations

enhanced the difference between the two peptides

because the secreted⁄ cellular ratio was increased with

peptide a19C compared to a and decreased with

pep-tide b19C compared to b

By contrast to the oligomeric patterns obtained

without a cysteine at position 19, we observed a

much stronger similarity between enzymes possessing

the same C-terminal peptide (a19C or b19C) than

between those possessing the same catalytic domain

(Fig 3B) Thus, mutation S19C in a19C strongly

increased the proportion of tetramers, which became

the predominant secreted species for both Aa19C and

Ba19C: these mutants produced very similar patterns

of molecular forms The effect of mutation N19C in

peptide b19C had little effect on the distribution of

secreted molecular forms of Bb19C In the case of

Ab19C, the effect was more complex: the cells

con-tained mostly 4S monomers but secreted a variety of

oligomers, mostly monomers, dimers, trimers,

tetra-mers and hexatetra-mers (see below) The fact that the

oligomeric forms were very low or undetectable in

the cells suggests that they were secreted very rapidly

after their assembly The results were identical when

the 19C mutations were combined with mutations

that modified the distance between the C-terminal

cysteine and the aromatic residues, as indicated above

(not shown)

Taken together, these results show that the t

pep-tides possessing a cysteine at position 19 had a

stron-ger effect on the secretability of cholinesterases than

wild-type t peptides, and exerted a dominant influence

on oligomerization

Effects of introducing cysteines at different

positions in BChE

Our previous study of Torpedo AChE showed that the

pattern of oligomerization depended critically on

the position at which a cysteine was introduced in the

t peptide [4] Because the presence of a cysteine induced tetramerization at position 19 of peptide a, but not at position 19 of peptide b, we explored the effects of cysteines at other positions in BChE We mutated residues that, similar to N19, are located within the aromatic-rich segment of peptide b, but are oriented in the opposite sector of the a helix, produc-ing mutants A12C, H15C, D23C and N26C (Fig 1B)

We also added a second cysteine near the C-terminus (S37C), changing the C-terminal peptide from SCVGL

to CCVGL

These mutations had little effect on the cellular or secreted activities compared to wild-type BChE, except that the secreted⁄ cellular ratio presented a minimum with a cysteine at position 19, and was notably increased in the mutant possessing two C-terminal cysteines (S37C) As shown in Fig 4, the sedimenta-tion profiles of cellular enzyme varied mostly in the proportions of monomers and dimers, whereas tetra-mers remained low The ratio of ditetra-mers to monotetra-mers was markedly increased with cysteines in the N-termi-nal region of peptide b: b12C and even more for b15C

We previously reported a similar observation in the case of mutants of Torpedo AChE [4] The proportion

of tetramers was higher in the medium, and was maxi-mal with mutation N19C Therefore, position 19 appears to be the most favorable for tetramerization,

as previously observed in the case of Torpedo AChE

Is the difference between oligomerization and secretion caused by individual residues that differ between peptides a and b?

Because a and b peptides only differ at a few positions,

we introduced point mutations to reduce these differ-ences We made these mutations in Ab19C because the level of activity, secretion and molecular forms of this mutant were strikingly different from those of Aa19C (Fig 1B) We thus mutated the first three residues of peptide b (GNI) as a group; W8 and E9 together and separately; G13, N18, M22 and D23 together and sepa-rately; and N29 and D30 together, replacing these residues by the corresponding ones in a We also mutated KES to QDR, and VG to DL at the C-termi-nus We observed no marked effect of any of these mutations on the cellular or secreted activities, except that mutation W8R increased both cellular activity and secretion, in agreement with the notion that aromatic residues induce degradation of AChE through an endo-plasmic reticulum associated degradation process [3]

In all these mutants, the cellular extracts contained only a trace of tetramers, as observed for Ab and

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Ab19C (Fig 5) The sedimentation profiles of the secreted enzyme were similar to those obtained with

Ab19C, except that the proportion of tetramers (G4) was somewhat increased with N18S The M22V muta-tion mostly increased the 13.5S species, and the D23H mutation did not increase G4by itself, but their combi-nation, M22V⁄ D23H, induced a significant increase in the proportion of secreted tetramers

Hoping to obtain a higher yield of secreted tetra-mers, we then combined the N18S and M22D⁄ D23H mutations in Ab19C The combination of mutations N18S, N19C, M22D and D23H, abbreviated asS, pro-duced the highest proportion of secreted G4 tetramers and the highest secreted⁄ cellular activity ratio Because these mutations appear to favor the production of tetramers with the b peptide, we introduced them, separately and together, in Bb19C However, the resulting BbS mutant did not produce a higher proportion of tetramers than Bb19C(Fig 5)

Stokes radius and mass of oligomers

We wished to further characterize the oligomers of Ab19C and other mutants, some of which sedimented faster than tetramers, at 12.3S and 13.5S Because cholinesterase oligomers may be associated with elongated proteins such as collagen ColQ, their mass cannot be simply deduced from their sedimentation coefficient, but rather from a combination of their Stokes radius and sedimen-tation coefficient [39] We therefore used gel filtration chromatography to determine the Stokes radius of oligo-mers secreted by the mutant AbN19C-N29D-D30H, which was chosen because it produces the complete variety of

Ab oligomers (Fig 6A) The major oligomers were iso-lated from gradient fractions By comparison with the standard proteins b-galactosidase and alkaline phospha-tase, we obtained Stokes radii values, as indicated in Fig 6B We then determined the mass of these oligomers, assuming that it is proportional to the product of the sed-imentation coefficient and Stokes radius, as expected for proteins of similar density The values thus obtained indi-cated a globular structure because the mass was in fact proportional to S3⁄ 2 This relationship allowed us to determined the mass of the minor components, sediment-ing at 8.5S and 12.3S (Fig 6A) Figure 6C shows that

Cell extract Medium

G1

G 2

G 4

G 1

G 2

G 4

G1

G 2

G 4

G 1

G 2

G 4

G 1

G 2

G 4

G 1

G 2

G 4

Bb A12C

Sedimentation coefficients

5 10 15

Bb H15C

Bb N19C

Bb D23C

Bb N26C

Bb S37C

Fig 4 Sedimentation profiles of mutants of human BChE (Bb) with cysteines at positions 12, 15, 19, 23 and 26 The profiles obtained for Bb19C, also shown in Fig 3, are repeated here for comparison with the other mutants The symbols are as in Fig 3 Tetramers, dimers and monomers are indicated as G 4 , G 2 and G 1 , respectively The mutations replacing various residues by cysteines

in the C-terminal peptide are indicated.

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the masses of the six observed oligomers represent

multi-ples of the smaller one, demonstrating that they represent

monomers (G1), dimers (G2), trimers (G3), tetramers

(G4), pentamers (G5) and hexamers (G6)

Trimers, pentamers and hexamers were only formed

with an additional cysteine (S19C) Thus, mutants of

Ab can associate into these different multimers,

illustrating the versatility of associations between

t peptides possessing a cysteine at position 19 As noted above, most of these oligomers were observed in the medium but not in cells By contrast, BChE only formed monomers, dimers and tetramers

Discussion The C-terminal t peptides do not influence cholinesterase activity

The catalytic domain of cholinesterases is associated with two major types of C-terminal peptides: the

h peptides contain a signal for the post-translational addition of a glycolipid anchor and cysteines that allow the formation of disulfide-linked dimers, and the

t peptides allow the formation of a variety of oligo-mers These peptides are not required for catalytic activity because truncated enzymes, which are reduced

to their catalytic domains, are fully active Previous studies showed that oligomers of AChETsubunits pos-sessed the same turnover rate per site, but this did not exclude a possible influence of the nature of C-terminal peptides To examine this question, we titrated the active sites of truncated, wild-type and chimeric cho-linesterases with the irreversible inhibitor DEPQ, and compared their activities with the substrates acetylthio-choline and butyrylthioacetylthio-choline We found that the cat-alytic rate per active site only depends on the catcat-alytic domain: it was identical for truncated enzymes (A or B) and with enzymes possessing either a or b C-termi-nal peptides, in agreement with previous studies [40] showing that the variants AChET, AChERand a trun-cated mutant possessed the same Km value and excess substrate inhibition These results also show that the catalytic activity is not influenced by the oligomeric state of the enzymes, and thus justifies quantitative comparisons between the activities of the various mutants investigated in the present study

Effect of the C-terminal t peptides on folding and secretion

The t peptides of cholinesterases form amphiphilic

a helices with a sector containing their seven conserved aromatic residues This organization is critical for the association of cholinesterase tetramers with anchoring proteins containing a PRAD, and most probably also for the assembly of homomeric tetramers However,

we have previously shown that the presence of aro-matic residues in the t peptide reduces the production and secretion of AChE, at two distinct checkpoints [41] First, it induces a partial misfolding of newly synthesized polypeptides; this effect depends on the

G1

G2 G4 G3 G6

G1

G2 G4 G6

cell extract

medium

G1

G2 G4

G6

G1

G2

G4

G1

G2 G4

G3

G6

G1

G2

G4

G3

G6

G1

G2 G4

G3

Sedimentation coefficients 5

10

15

Ab N18S

N19C

Ab N19C

M22V

Ab N19C

D23H

Ab N19C

M22V D23H

Ab N18S N19C

M22V D23H

G1 G2 G6

G1

G2 G6

Bb N18S N19C

Bb N18S N19C M22V D23H

Bb N19C M22V D23H

5 10 15

Ab N19C

Fig 5 Effect of mutations suppressing differences between a and

b, on the distribution of oligomeric forms (A) Left panels and top

right panel: Ab 19C (B) Lower right panels: Bb 19C Sedimentation

patterns are shown as in Fig 3 The sedimentation profiles of the

Ab19Cmutant (top right panel) are repeated for comparison with

those obtained with additional mutations, which suppressed some

of the differences with peptide a Note that the effects of

muta-tions M22V and D23H are not additive.

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hydrophobic character of these residues because the

same effect was observed when they were replaced by

leucines [5] Second, they target a fraction of active

AChE subunits towards degradation by endoplasmic

reticulum associated degradation rather than secretion;

this effect depends on the presence of aromatic

resi-dues, rather than on hydrophobicity This quality

con-trol process may ensure that only correctly assembled

subunits are efficiently exported from the cells

The present results confirm that the production,

secretion and oligomerization of human AChE and

BChE are strongly influenced by their t peptides In

agreement with previous results, secretion was

consid-erably increased for both enzymes when the t peptides

were deleted Using chimeras in which these peptides

were exchanged (Ab, Ba), we further showed that the

ratio between secreted and cellular activities, which

may be taken as an index of secretability, was

essen-tially determined by the t peptide The rate of secretion

with the t peptide from AChE (a) was more than

two-fold higher than with the t peptide from BChE (b)

With modified t peptides possessing a cysteine near the

center of the aromatic cluster (S19C in a and N19C

in b), this difference became more than six-fold

The respective roles of the catalytic domains

and t peptides in oligomerization

Although the truncated A and B mutants only

pro-duced monomers, the Aa, Ab, Ba and Bb enzymes all

formed oligomers, including tetramers Because these tetramers were obtained without co-expression with a PRAD-containing protein, they most probably repre-sent homotetramers, in which the four t peptides may form a coiled coil complex with all aromatic residues oriented inwards, but without a central PRAD This hypothesis is supported by the fact that, although the presence of a PRAD only induces the assembly of tet-ramers, expression of some mutants without a PRAD produces tetramers together with other oligomers, including molecular forms sedimenting as trimers, pen-tamers and hexamers The odd-numbered complexes are not likely to represent heteromeric associations containing other proteins because they only occur with some Ab mutants with an added cysteine, and their masses correspond exactly to those expected for multi-ples of AChE subunits Because the formation of these unusual oligomers appears to depend strictly on the presence of an additional cysteine, they are probably stabilized by a network of inter-catenary disulfide bonds, linking all subunits together

The Ab19C chimera formed all oligomeric forms from monomers to hexamers, illustrating the versatility

of oligomeric associations based on the t peptide, in association with the catalytic domain It should be noted that hexamers have been observed in transfected COS cells expressing wild-type rat AChE, and appeared as a transient mode of association, which could be dissociated into monomers, dimers and tetra-mers (e.g in the presence of Triton X-100) [7] By

Ab N19C

N29D-D30H

secreted activity

G 1

G 2

G 3

G 4

G 5

G 6

Sedimentation coefficients

5 10

15

G 6

Elution coefficient (Ve-Vo)/(Vt-Vo)

-galactosidase Alkaline phosphatase

G 4 G 2

G 1

0 100 200 300 400 500

4.3 S 6.5 S

10.5 S

13.5 S

8.5 S

12.3 S

Numbers of subunits

G 6

G 5

G 4

G 3

G 2

G 1

Fig 6 Determination of the Stokes radius and mass of AChE B oligomers (A) Oligomers were isolated from sucrose gradients of medium from cells expressing the Ab 19C-29D-30H mutant The profile of cellular activity was identical to that shown in Fig 3B for the Ab 19C mutant (B) Elution of oligomers in gel filtration chromatography The elution parameters were defined as Ke= (Ve– Vo) ⁄ (V t – Vo), where Vo corre-sponds to the exclusion volume (blue dextran) and V t is the total volume (potassium ferricyanide) The Stokes radii were determined from the linear relationship between the Stokes radius and the square root of [ )log (K e )] using the standards b-galactosidase (6.9 nm, 16S,

464 kDa) and alkaline phosphatase (3.3 nm, 6.1S; 87 kDa) (C) The masses of the different oligomers were determined by their proportional-ity to the product of the Stokes radius with the sedimentation coefficient The masses of the minor 8.5S and 12.3S species were deter-mined from the linear relationship with S3⁄ 2, observed for the other oligomers The masses are found to be proportional to discrete degrees

of oligomerization, from 1 to 6, showing that the oligomers correspond to monomers (G1), dimers (G2), trimers (G3), tetramers (G4), penta-mers (G5) and hexamers (G6).

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contrast, Bb19C only formed the classical monomers,

dimers and tetramers, possibly because of steric

constraints due to the catalytic domain or to its

associ-ated N-glycans

Although the nature and proportions of oligomers

depended on the presence of the t peptides and their

cysteines, the catalytic domains also influenced the

oligomerization patterns The cellular and secreted

oligomers formed by Aa and Ab were very similar, as

well as those formed by Ba and Bb, suggesting a

pre-dominant influence of the catalytic domains on

oligo-merization This may be due in part to the difference

in N-glycosylation of AChE and BChE, which carry

four and nine N-glycan chains, respectively [35]; we

therefore compared the oligomeric patterns of

wild-type BChE and mutants in which part of the

N-glycosylation sites were mutated [36], but observed

no difference (not shown) The relative influence of the

C-terminal t peptide appeared to be strongly increased

when a cysteine was added at position 19 because the

patterns obtained for Aa and Ba were almost the same,

except for a shift in the sedimentation coefficients,

which are higher for BChE than for AChE

By contrast to Aa and Ab, oligomers of Ba and Bb

represented a significant proportion of cellular activity,

indicating that AChE oligomers were secreted more

rapidly after assembly than BChE oligomers It is

remarkable that the Ab19C oligomers were observed in

the medium but not in cell extracts This could be

related to the presence of the peptide b19C which

reduces secretion but may be masked in the oligomers

Thus, both the catalytic domain and the C-terminal

t peptides contribute to the control of oligomerization

and secretion, in a complex interplay

Origin and significance of the difference between

the t peptides of AChE and BChE

The a and b peptides present a considerable sequence

similarity, with 60% identical residues, including the

seven aromatic residues and the cysteine, which play a

key role in the interaction properties of the t peptides

In addition, both peptides are predicted to possess the

same tendency to form amphiphilic a helices It was

therefore unexpected to observe a strong difference in

their influence on the oligomerization and secretion of

AChE and BChE We tried to assign this difference

to some of the residues that distinguish the a and b

peptides Because oligomerization also depends on the

catalytic domains, as indicated by the difference

between the molecular forms produced by Ab19C and

Bb19C, the linkage between the two domains might well

play a crucial role in the quaternary associations of

the cholinesterase subunits The first three residues of peptides a and b are indeed different, but their replace-ment in Ab19C (GNI to DTL) had little effect on either secretion or oligomerization It is also noteworthy that the effects of the combined mutations M22D⁄ V23H could not be simply accounted for by the effects of the separate mutations M22V and D23V This suggests that the secretory trafficking of molecules containing peptides a and b depends on global properties of the peptides rather than on individual residues

AChE and BChE are expressed differentially during embryogenesis [42–44] They appear to play distinct roles, which may be based on their catalytic activity, but also on protein–protein interactions [45], because their catalytic domain is homologous to adhesion pro-teins such as neuroligin [46,47] For example, AChE may be involved in neurite extension during brain development [40,48,49] Both catalytic and noncatalytic functions clearly require appropriate oligomeric orga-nization and localization and therefore depend on the C-terminal t peptides, which may be directly involved

in distinct interactions with partner proteins

The two cholinesterases present a complex relation-ship with the development of Alzheimer’s disease, which may be partly related to their C-terminal t peptides Both AChE and BChE are associated with senile pla-ques in Alzheimer’s disease [50] but they appear to play antagonistic roles: AChE promotes amyloid aggregation and increases the neurotoxicity of the Ab peptide

in vitro, suggesting that it may participate in the patho-genesis of the disease [51,52]; this appears to depend on interactions of Ab peptides with the peripheral site of AChE and not on its C-terminal t peptide, which has no effect on Ab aggregation [53] By contrast, the C-termi-nal t peptide of BChE (peptide b) was found to reduce

Ab aggregation, possibly because of the presence of its additional tryptophan (W8) located opposite to the aro-matic cluster of the amphiphilic helix (Fig 1B), so that BChE might have a protective effect against Alzheimer’s disease [53,54] In this respect, it is worth recalling that, although the human AChE t peptide (here termed peptide a) is organized as an a helix, its AEFHRWS-SYMVHWK fragment, which resembles a portion of the amyloid Ab peptide (AEFRHDSGYEVHHQK), was found to organize into b sheets and to form fibrils;

by contrast, the homologous fragment from BChE

property [55–57]

AChE and BChE probably arose from a gene dupli-cation in the lineage of vertebrates and it is remarkable that sequence differences between their t peptides are strongly conserved, suggesting that they correspond to distinct molecular interactions and the oligomerization

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